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LEMD3 Gene

protein-coding   GIFtS: 54
GCID: GC12P065563

LEM Domain Containing 3

  See LEMD3-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
LEM Domain Containing 31 2
MAN12 3 5
LEM Domain-Containing Protein 32 3
Inner Nuclear Membrane Protein Man12
Integral Inner Nuclear Membrane Protein2

External Ids:    HGNC: 288871   Entrez Gene: 235922   Ensembl: ENSG000001741067   OMIM: 6078445   UniProtKB: Q9Y2U83   

Export aliases for LEMD3 gene to outside databases

Previous GC identifers: GC12P063850 GC12P062615


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for LEMD3 Gene:
This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming
growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms
have been found for this gene. Mutations in this gene have been associated with osteopoikilosis,
Buschke-Ollendorff syndrome and melorheostosis.(provided by RefSeq, Nov 2009)

GeneCards Summary for LEMD3 Gene:
LEMD3 (LEM domain containing 3) is a protein-coding gene. Diseases associated with LEMD3 include familial cutaneous collagenoma, and osteopoikilosis. GO annotations related to this gene include nucleotide binding. An important paralog of this gene is LEMD2.

UniProtKB/Swiss-Prot: MAN1_HUMAN, Q9Y2U8
Function: Can function as a specific repressor of TGF-beta, activin, and BMP signaling through its interaction
with the R-SMAD proteins. Antagonizes TGF-beta-induced cell proliferation arrest




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the LEMD3 gene promoter:
         STAT1   MEF-2   MyoD   STAT1alpha   MEF-2A   Ik-2   STAT2   STAT3   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLEMD3 promoter sequence
   Search Chromatin IP Primers for LEMD3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LEMD3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q14   Ensembl cytogenetic band:  12q14.3   HGNC cytogenetic band: 12q14

LEMD3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LEMD3 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P065563:  view genomic region     (about GC identifiers)

Start:
65,563,351 bp from pter      End:
65,642,141 bp from pter
Size:
78,791 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MAN1_HUMAN, Q9Y2U8 (See protein sequence)
Recommended Name: Inner nuclear membrane protein Man1  
Size: 911 amino acids; 99997 Da
Subunit: Interacts with SMAD1, SMAD2, SMAD3 and SMAD5. Binds to both phosphorylated and unphosphorylated R-SMADS
1 PDB 3D structure from and Proteopedia for LEMD3:
2CH0 (3D)    
Secondary accessions: Q9NT47 Q9NYA5

Explore the universe of human proteins at neXtProt for LEMD3: NX_Q9Y2U8

Explore proteomics data for LEMD3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys787
  • Modification sites at PhosphoSitePlus

  • See LEMD3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001161086.1  NP_055134.2  

    ENSEMBL proteins: 
     ENSP00000308369  
    Reactome Protein details: Q9Y2U8

    LEMD3 Human Recombinant Protein Products:

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    antibodies-online peptides for LEMD3

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    antibodies-online antibodies for LEMD3 (15 products) 

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    antibodies-online kits for LEMD3 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR003887 LEM_dom
     IPR012677 Nucleotide-bd_a/b_plait
     IPR011015 LEM/LEM-like_dom
     IPR018996 Inner-Nucl-membr_MAN1

    Graphical View of Domain Structure for InterPro Entry Q9Y2U8

    ProtoNet protein and cluster: Q9Y2U8

    2 Blocks protein domains:
    IPB000504 RNA-binding region RNP-1 (RNA recognition motif)
    IPB011015 LEM-like fold


    UniProtKB/Swiss-Prot: MAN1_HUMAN, Q9Y2U8
    Similarity: Contains 1 LEM domain


    Find genes that share domains with LEMD3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MAN1_HUMAN, Q9Y2U8
    Function: Can function as a specific repressor of TGF-beta, activin, and BMP signaling through its interaction
    with the R-SMAD proteins. Antagonizes TGF-beta-induced cell proliferation arrest

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI15647271
         
    Find genes that share ontologies with LEMD3           About GenesLikeMe


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Lemd3):
     cardiovascular system  cellular  embryogenesis  mortality/aging 

    Find genes that share phenotypes with LEMD3           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for LEMD3

    miRNA
    Products:
        
    miRTarBase miRNAs that target LEMD3:
    hsa-mir-335-5p (MIRT018252), hsa-mir-22-3p (MIRT030644), hsa-mir-1 (MIRT023852), hsa-mir-155-5p (MIRT020835), hsa-mir-10b-5p (MIRT047401), hsa-mir-10a-5p (MIRT047520)

    Block miRNA regulation of human, mouse, rat LEMD3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LEMD3 (see all 48):
    hsa-miR-429 hsa-miR-374a hsa-miR-124 hsa-miR-34b hsa-miR-506 hsa-miR-200b hsa-miR-4326 hsa-miR-192*
    SwitchGear 3'UTR luciferase reporter plasmidLEMD3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat LEMD3

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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LEMD3
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    Addgene plasmids for LEMD3 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LEMD3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MAN1_HUMAN, Q9Y2U8: Nucleus inner membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane3
    endoplasmic reticulum2
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005635nuclear envelope ----
    GO:0005637nuclear inner membrane IDA15647271
    GO:0005639integral component of nuclear inner membrane IEA--
    GO:0016020membrane TAS10671519
    GO:0016021integral component of membrane IDA10671519

    Find genes that share ontologies with LEMD3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for LEMD3 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    2Nuclear Envelope Reassembly
    Nuclear Envelope Reassembly
    Initiation of Nuclear Envelope Reformation0.00
    Clearance of Nuclear Envelope Membranes from Chromatin0.00
    3Mitotic Metaphase and Anaphase
    Mitotic Anaphase0.94
    Mitotic Metaphase and Anaphase0.93
    4Regulation of Glucokinase by Glucokinase Regulatory Protein
    Nuclear Envelope Breakdown0.77
    5RNA Polymerase I Promoter Opening
    Mitotic Prophase0.56


    Find genes that share SuperPaths with LEMD3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for LEMD3
        Signal transduction Activin A signaling regulation

    3 Reactome Pathways for LEMD3
        Initiation of Nuclear Envelope Reformation
    Clearance of Nuclear Envelope Membranes from Chromatin
    Depolymerisation of the Nuclear Lamina


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for LEMD3
    Interactions:

        GeneGlobe Interaction Network for LEMD3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for LEMD3 (Q9Y2U82, 3 ENSP000003083694) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD1Q157972, 3, ENSP000003057694MINT-61999 I2D: score=4 STRING: ENSP00000305769
    SMAD9O151982, 3, ENSP000003691544MINT-62084 I2D: score=3 STRING: ENSP00000369154
    SMAD2Q157963, ENSP000002621604I2D: score=4 STRING: ENSP00000262160
    SMAD3P840223, ENSP000003329734I2D: score=2 STRING: ENSP00000332973
    BCLAF1Q9NYF83, ENSP000000311354I2D: score=1 STRING: ENSP00000031135
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030512negative regulation of transforming growth factor beta receptor signaling pathway IDA15647271
    GO:0030514negative regulation of BMP signaling pathway IDA15647271
    GO:0032926negative regulation of activin receptor signaling pathway IDA15647271
    GO:0035914skeletal muscle cell differentiation IEA--
    GO:0051726regulation of cell cycle IEA--

    Find genes that share ontologies with LEMD3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for LEMD3 (MAN1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for LEMD3 gene (2 alternative transcripts): 
    NM_001167614.1  NM_014319.4  

    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000308330(uc001ssl.2 uc009zqo.2) ENST00000541171 ENST00000542032
    ENST00000544506 ENST00000539442 ENST00000545026
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate LEMD3 (see all 48):
    hsa-miR-429 hsa-miR-374a hsa-miR-124 hsa-miR-34b hsa-miR-506 hsa-miR-200b hsa-miR-4326 hsa-miR-192*
    SwitchGear 3'UTR luciferase reporter plasmidLEMD3 3' UTR sequence
    Inhib. RNA
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    Addgene plasmids for LEMD3 
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      QuantiTect SYBR Green Assays in human, mouse, rat LEMD3
      QuantiFast Probe-based Assays in human, mouse, rat LEMD3

    Selected AceView cDNA sequences (see all 131):

    BM561643 CB129592 AI767794 BF590833 BQ012024 BQ005283 AI917486 AA434025 
    BX282711 BX954817 BU164555 AA554245 AI288228 CB162797 AW630899 BM970311 
    AA601980 AL137533 BM729199 AA287675 AK024954 BX510007 BF983534 AL708898 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for LEMD3    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b
    SP1:                                                        -                           
    SP2:                                                                                    


    ECgene alternative splicing isoforms for LEMD3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    LEMD3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAACATTGT
    LEMD3 Expression
    About this image

    LEMD3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LEMD3 Protein Expression

    UniProtKB/Swiss-Prot: MAN1_HUMAN, Q9Y2U8
    Tissue specificity: Heart, brain, placenta, lung, liver and skeletal muscle

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for LEMD3 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lemd31 , 5 LEM domain containing 31, 5 86.23(n)1
    86.57(a)1
      10 (68.88 cM)5
    3806641  NM_001081193.21  NP_001074662.21 
     1209234135 
    chicken
    (Gallus gallus)
    Aves LEMD31 LEM domain containing 3 80.45(n)
    82.05(a)
      417832  XM_416073.4  XP_416073.3 
    lizard
    (Anolis carolinensis)
    Reptilia LEMD36
    LEM domain containing 3
    65(a)
    1 ↔ 1
    5(50101435-50132527)
    African clawed frog
    (Xenopus laevis)
    Amphibia XMAN12 nuclear membrane protein XMAN1 77.29(n)    AF115498.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570400422   -- 75.22(n)    57040042 
    worm
    (Caenorhabditis elegans)
    Secernentea lem-26
    Protein LEM-2 (lem-2) mRNA, complete cds
    20(a)
    1 ↔ 1
    II(14063450-14065904) WBGene00002275


    ENSEMBL Gene Tree for LEMD3 (if available)
    TreeFam Gene Tree for LEMD3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LEMD3 gene
    LEMD22  

    Find genes that share paralogs with LEMD3           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LEMD3 (see all 1422)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs605673031,2
    C--62648798(+) CCAAT-/AATG  
            
    GAACA
    2 -- int10--------
    rs2016748451,2
    --62655640(+) TAGAG-/GTGA  
            
    ATGAA
    2 -- int10--------
    rs345358831,2
    C--62655641(+) AGAGG-/TGAA  
            
    TGAAG
    2 -- int10--------
    rs344685511,2
    C--62666694(+) TCAGC-/TTTTTT 2 -- int12Minor allele frequency- T:0.25NA 4
    rs57987751,2
    C--62673879(+) GTGTT-/TTATTATT 2 -- cds10--------
    rs351917001,2
    C--62682069(+) GTCTC-/AAAAAA 2 -- int12Minor allele frequency- A:0.25NA CSA 4
    rs1883974811,2
    --65398346(+) CTCTAC/TGATTC 2 -- us2k10--------
    rs1386904731,2
    --65398413(+) AGACAC/GGGCTG 2 -- us2k10--------
    rs1412439631,2
    --65398476(+) TACATA/GGAGAC 2 -- us2k10--------
    rs122983671,2
    C,F,A,H--65398490(+) AGTCCA/GCTAAG 2 -- us2k111Minor allele frequency- G:0.13NS EA WA CSA 1414

    HapMap Linkage Disequilibrium report for LEMD3 (65563351 - 65642141 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for LEMD3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv522671CNV Loss19592680
    nsv832445CNV Gain17160897

    Human Gene Mutation Database (HGMD): LEMD3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LEMD3
    DNA2.0 Custom Variant and Variant Library Synthesis for LEMD3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607844   
    OMIM disorders: 166700  155950  
    UniProtKB/Swiss-Prot: MAN1_HUMAN, Q9Y2U8
  • Buschke-Ollendorff syndrome (BOS) [MIM:166700]: A disease characterized by osteopoikilosis and
    disseminated connective-tissue nevi. Osteopoikilosis is a skeletal dysplasia characterized by a symmetric but
    unequal distribution of multiple hyperostotic areas in different parts of the skeleton. Elastic-type nevi
    (juvenile elastoma) and collagen-type nevi (dermatofibrosis lenticularis disseminata) have been described in BOS.
    Skin or bony lesions can be absent in some family members, whereas other relatives may have both. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Melorheostosis (MEL) [MIM:155950]: Rare mesenchymal dysplasia and one of the sclerosing bone disorders.
    It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be
    asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 6 diseases for LEMD3:    
    About MalaCards
    familial cutaneous collagenoma    osteopoikilosis    melorheostosis    melorheostosis with osteopoikilosis
    buschke ollendorff syndrome    12q14 microdeletion syndrome

    3 diseases from the University of Copenhagen DISEASES database for LEMD3:
    Osteopoikilosis     Melorheostosis     Emery-Dreifuss muscular dystrophy

    Find genes that share disorders with LEMD3           About GenesLikeMe

    6 Novoseek inferred disease relationships for LEMD3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    buschke-ollendorff syndrome 89.9 6 17087626 (2), 15601644 (1), 20083694 (1)
    osteopoikilosis 84.9 5 17087626 (2), 15601644 (1)
    muscular dystrophy emery-dreifuss 84.2 2 10806084 (1), 17467691 (1)
    melorheostosis 76.8 2 17087626 (1), 15601644 (1)
    bone dysplasias 67.1 2 16648637 (1), 17467691 (1)
    skeletal dysplasia 55.4 1 17467691 (1)

    Genetic Association Database (GAD): LEMD3

    Export disorders for LEMD3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for LEMD3 gene, integrated from 10 sources (see all 58):
    (articles sorted by number of sources associating them with LEMD3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. MAN1, an inner nuclear membrane protein that shares the LEM domain with lamina-associated polypeptide 2 and emerin. (PubMed id 10671519)1, 2, 3, 9 Lin F.... Worman H.J. (J. Biol. Chem. 2000)
    2. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. (PubMed id 15489854)1, 2, 3 Hellemans J.... Mortier G.R. (Nat. Genet. 2004)
    3. MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-beta signaling. (PubMed id 15601644)1, 2, 9 Lin F.... Worman H.J. (Hum. Mol. Genet. 2005)
    4. The carboxyl-terminal nucleoplasmic region of MAN1 exhibits a DNA binding winged helix domain. (PubMed id 16648637)1, 2, 9 Caputo S.... Zinn-Justin S. (J. Biol. Chem. 2006)
    5. The integral inner nuclear membrane protein MAN1 physically interacts with the R-Smad proteins to repress signaling by the transforming growth factor-{beta} superfamily of cytokines. (PubMed id 15647271)1, 2, 9 Pan D.... Luo K. (J. Biol. Chem. 2005)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    7. Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis. (PubMed id 17087626)1, 9 Mumm S....Whyte M.P. (J. Bone Miner. Res. 2007)
    8. Intracellular trafficking of MAN1, an integral protein of the nuclear envelope inner membrane. (PubMed id 11896184)1, 9 Wu W....Worman H.J. (J. Cell. Sci. 2002)
    9. Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family. (PubMed id 20083694)1, 9 Yadegari M....Cohen S.R. (Arch Dermatol 2010)
    10. Direct binding of nuclear membrane protein MAN1 to emerin in vitro and two modes of binding to barrier-to-autointegration factor. (PubMed id 15681850)1, 9 Mansharamani M. and Wilson K.L. (J. Biol. Chem. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23592 HGNC: 28887 AceView: MAN1 Ensembl:ENSG00000174106 euGenes: HUgn23592
    ECgene: LEMD3 H-InvDB: LEMD3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for LEMD3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for LEMD3 gene:
    Search GeneIP for patents involving LEMD3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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